A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10121



Internal ID15195990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:94227413..94259400hg38UCSC Ensembl
Outerchr1:94692969..94724956hg19UCSC Ensembl
Outerchr1:94465557..94497544hg18UCSC Ensembl
Outerchr1:94404990..94436977hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg387482
hg197482
hg187482
hg177482
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1888
Supporting Variants
SamplesNA18956
Known GenesARHGAP29
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv10121
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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